Gene: Pja1 MGI:1101765

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Gene Summary

Name:
praja ring finger ubiquitin ligase 1
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal liver morphology Pja1em1(IMPC)Mbp HEM Early adult 0.00
abnormal eye morphology Pja1em1(IMPC)Mbp HEM Early adult 0.00
abnormal skin morphology Pja1em1(IMPC)Mbp HEM Early adult 0.00
abnormal eye morphology Pja1em1(IMPC)Mbp HOM Early adult 0.00
enlarged ovary Pja1em1(IMPC)Mbp HOM Early adult 0.00
increased B cell number Pja1PJA1 HEM   Early adult 1.80×10-05
cataract Pja1em1(IMPC)Mbp HEM Early adult 1.80×10-06
microphthalmia Pja1em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Pja1em1(IMPC)Mbp HEM Early adult 0.00
abnormal ovary morphology Pja1em1(IMPC)Mbp HOM Early adult 0.00
hypoactivity Pja1em1(IMPC)Mbp HOM   Early adult 2.84×10-14

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Pja1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pja1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microphthalmia, Isolated, With Cataract 1
OMIM:156850
Cataract 20, Multiple Types
OMIM:116100
Neutropenia, Severe Congenital, 2, Autosomal Dominant
OMIM:613107
Microphthalmia, Isolated, With Coloboma 3
OMIM:610092
Macrosomia-Microphthalmia-Cleft Palate Syndrome
ORPHA:2432
Cataract 9, Multiple Types
OMIM:604219
46,Xx Testicular Disorder Of Sex Development
ORPHA:393
Microphthalmia, Isolated, With Coloboma 4
OMIM:251505
Polycystic Ovary Syndrome 1
OMIM:184700
Hereditary Hyperferritinemia-Cataract Syndrome
ORPHA:163
Nanophthalmos 1
OMIM:600165
Cataract 29
OMIM:115800
Microphthalmia, Isolated 7
OMIM:613704
Cataract 35
OMIM:609376
Cataract 36
OMIM:613887
Cataract 18
OMIM:610019
Nanophthalmos 2
OMIM:609549
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
ORPHA:79281
Hypertrophic Neuropathy And Cataract
OMIM:239900
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
ORPHA:90301
B-Cell Expansion With Nfkb And T-Cell Anergy
OMIM:616452
Cataract And Congenital Ichthyosis
OMIM:212400
Cataract 11, Multiple Types
OMIM:610623
Cortical Dysplasia, Complex, With Other Brain Malformations 6
OMIM:615771
Combined Cellular And Humoral Immune Defects With Granulomas
OMIM:233650
Microphthalmia, Isolated, With Coloboma 10
OMIM:616428
Aniridia 3
OMIM:617142
Microphthalmia, Isolated 4
OMIM:613094
Corneal Dystrophy, Groenouw Type I
OMIM:121900
Macrosomia With Microphthalmia, Lethal
OMIM:248110
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
ORPHA:1875
Galactosemia Iv
OMIM:618881
Nanophthalmos 4
OMIM:615972
Microphthalmia, Isolated, With Coloboma 5
OMIM:611638
Hepatic Adenomas, Familial
OMIM:142330
Foveal Hypoplasia 2
OMIM:609218
Anterior Segment Dysgenesis 7
OMIM:269400
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
ORPHA:85275
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
OMIM:616335
Congenital Varicella Syndrome
ORPHA:291
Galactosemia Ii
OMIM:230200
Gombo Syndrome
OMIM:233270
Immunodeficiency 72 With Autoinflammation
OMIM:618982
Aldh18A1-Related De Barsy Syndrome
ORPHA:35664
Microphthalmia, Isolated, With Coloboma 6
OMIM:613703
Microcephaly-Microcornea Syndrome, Seemanova Type
ORPHA:2528
Microphthalmia, Isolated, With Coloboma 7
OMIM:614497
Functioning Gonadotropic Adenoma
ORPHA:91348
Xeroderma Pigmentosum, Complementation Group G
OMIM:278780
Oculoauricular Syndrome
OMIM:612109
46,Xy Complete Gonadal Dysgenesis
ORPHA:242
Gonadoblastoma
ORPHA:206484
Microphthalmia, Syndromic 12
OMIM:615524
Anterior Segment Dysgenesis 5
OMIM:604229
Immunodeficiency 15A
OMIM:618204
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
OMIM:120433
Xp22.3 Microdeletion Syndrome
ORPHA:1643
Faciothoracogenital Syndrome
OMIM:227320
Autosomal Dominant Keratitis
ORPHA:2334
Cataract-Microcornea Syndrome
ORPHA:1377
Mmep Syndrome
ORPHA:3434
Microphthalmia, Isolated 1
OMIM:251600
Premature Ovarian Failure 2A
OMIM:300511
Trichomegaly
OMIM:190330
Microphthalmia, Isolated 6
OMIM:613517
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
OMIM:616171
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
OMIM:613076
Microphthalmia, Isolated 3
OMIM:611038
Premature Ovarian Failure 12
OMIM:616947
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
OMIM:610023
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
OMIM:212550
Agammaglobulinemia 8, Autosomal Dominant
OMIM:616941
Congenital Primary Aphakia
ORPHA:83461
Congenital Disorder Of Glycosylation, Type Ii
OMIM:607906
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
OMIM:251700
46,Xx Ovotesticular Disorder Of Sex Development
ORPHA:2138
Ehlers-Danlos Syndrome, Beasley-Cohen Type
OMIM:608763
Ovarian Hyperstimulation Syndrome
ORPHA:64739
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
ORPHA:1473
Autoimmune Lymphoproliferative Syndrome, Type Iii
OMIM:615559
Dihydropyrimidine Dehydrogenase Deficiency
OMIM:274270
Triokinase And Fmn Cyclase Deficiency Syndrome
OMIM:618805
Familial Hyperprolactinemia
ORPHA:397685
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
ORPHA:75325
Anterior Segment Dysgenesis 2
OMIM:610256
Biemond Syndrome Type 2
ORPHA:141333
Estrogen Resistance Syndrome
ORPHA:785
Peroxisome Biogenesis Disorder 8A (Zellweger)
OMIM:614876
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
ORPHA:2229
Premature Ovarian Failure 5
OMIM:611548
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
ORPHA:324416
Megalocornea
OMIM:309300
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
ORPHA:90796
Rudiger Syndrome
OMIM:268650
Nanophthalmos
ORPHA:35612
Anterior Segment Dysgenesis 8
OMIM:617319
Cerebrooculofacioskeletal Syndrome 3
OMIM:616570
2Q24 Microdeletion Syndrome
ORPHA:1617
Rabson-Mendenhall Syndrome
ORPHA:769
Premature Ovarian Failure 16
OMIM:618723
Peutz-Jeghers Syndrome
ORPHA:2869
Ovarian Dysgenesis 2
OMIM:300510
Idiopathic Uveal Effusion Syndrome
ORPHA:209956
Insulin-Resistance Syndrome Type B
ORPHA:2298
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
OMIM:106230
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
ORPHA:1574
Premature Ovarian Failure 19
OMIM:619245
Norrie Disease
OMIM:310600
Premature Ovarian Failure 1
OMIM:311360
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
ORPHA:231736
Galactose Mutarotase Deficiency
ORPHA:570422
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
ORPHA:363741
Ring Chromosome Y Syndrome
ORPHA:261529
Galactose Epimerase Deficiency
ORPHA:79238
Chorea, Remitting, With Nystagmus And Cataract
OMIM:601372
Autoimmune Lymphoproliferative Syndrome, Type Iia
OMIM:603909
Premature Ovarian Failure 9
OMIM:615724
Tetragametic Chimerism
ORPHA:199310
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
OMIM:609313
Congenital Rubella Syndrome
ORPHA:290
Thanatophoric Dysplasia, Glasgow Variant
OMIM:273680
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
OMIM:254000
Premature Ovarian Failure 8
OMIM:615723
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
OMIM:267760
Coats Disease
ORPHA:190
Premature Ovarian Failure 3
OMIM:608996
Microcephaly 20, Primary, Autosomal Recessive
OMIM:617914
Microphthalmia, Syndromic 13
OMIM:300915
Aromatase Deficiency
ORPHA:91
Isolated Aniridia
ORPHA:250923
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
ORPHA:1067
Aniridia-Intellectual Disability Syndrome
ORPHA:1068
Opitz Gbbb Syndrome
ORPHA:2745
Exfoliation Syndrome
OMIM:177650
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
OMIM:601794
Microphthalmia, Isolated, With Corectopia
OMIM:156900
Alg2-Cdg
ORPHA:79326
Cofs Syndrome
ORPHA:1466
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
OMIM:194072
Cataract 1, Multiple Types
OMIM:116200
Xk Aprosencephaly Syndrome
ORPHA:3469
Immunodeficiency, Common Variable, 13
OMIM:616873
Alg8-Cdg
ORPHA:79325
Aromatase Deficiency
OMIM:613546
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
ORPHA:95699
Leprechaunism
ORPHA:508
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
ORPHA:48431
Combined Immunodeficiency Due To Partial Rag1 Deficiency
ORPHA:231154
Familial Partial Lipodystrophy, Köbberling Type
ORPHA:79084
Iris Pigment Layer, Cleavage Of
OMIM:147610
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
OMIM:251270
Microphthalmia, Isolated 5
OMIM:611040
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
OMIM:615877
Oculocerebrocutaneous Syndrome
OMIM:164180
Leber Congenital Amaurosis 7
OMIM:613829
Carney Complex
ORPHA:1359
Lipodystrophy, Partial, Acquired, Susceptibility To
OMIM:608709
Isolated Optic Nerve Hypoplasia/Aplasia
ORPHA:137902
Premature Ovarian Failure 7
OMIM:612964
Dextrocardia With Unusual Facies And Microphthalmia
OMIM:221950
Microphthalmia, Syndromic 8
OMIM:601349
Oculogastrointestinal Neurodevelopmental Syndrome
OMIM:619318
Cataract 15, Multiple Types
OMIM:615274
Ovarian Fibroma
ORPHA:314473
Aniridia 2
OMIM:617141
Warburg Micro Syndrome 1
OMIM:600118
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
OMIM:221900
Hypogonadotropic Hypogonadism 23 Without Anosmia
OMIM:228300
Microphthalmia, Syndromic 11
OMIM:614402
Hypodontia-Dysplasia Of Nails Syndrome
ORPHA:2228
Cerebrooculofacioskeletal Syndrome 1
OMIM:214150
Fraser-Like Syndrome
OMIM:229230
X-Linked Dominant Chondrodysplasia Punctata
ORPHA:35173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
OMIM:614830
Cat-Eye Syndrome
ORPHA:195
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
ORPHA:3085
Cataract 47
OMIM:612018
Microphthalmia With Brain And Digit Anomalies
ORPHA:139471
Nance-Horan Syndrome
ORPHA:627
Diethylstilbestrol Syndrome
ORPHA:1916
Pierpont Syndrome
ORPHA:487825
Fryns Microphthalmia Syndrome
OMIM:600776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
OMIM:613153
Premature Ovarian Failure 10
OMIM:612885
Congenital Toxoplasmosis
ORPHA:858
Ataxia-Telangiectasia
ORPHA:100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
OMIM:615181
Cowden Syndrome
ORPHA:201
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
OMIM:152950
Mu-Heavy Chain Disease
ORPHA:100024
Pierpont Syndrome
OMIM:602342
Perrault Syndrome 6
OMIM:617565
Hemolytic Anemia Due To Glutathione Reductase Deficiency
OMIM:618660
Ovarian Fibrothecoma
ORPHA:314478
Cerebrooculofacioskeletal Syndrome 2
OMIM:610756
Microphthalmia, Isolated, With Coloboma 9
OMIM:615145
Bartsocas-Papas Syndrome 2
OMIM:619339
Matthew-Wood Syndrome
ORPHA:2470
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
ORPHA:1135
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
ORPHA:93267
Chromosome 1Q41-Q42 Deletion Syndrome
OMIM:612530
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
OMIM:609993
Amoebic Keratitis
ORPHA:67043
Osteoporosis-Pseudoglioma Syndrome
ORPHA:2788
Premature Ovarian Failure 18
OMIM:619203
Plin1-Related Familial Partial Lipodystrophy
ORPHA:280356
Congenital Fibrinogen Deficiency
ORPHA:335
Premature Ovarian Failure 6
OMIM:612310
Hypergonadotropic Hypogonadism And Partial Alopecia
OMIM:241090
Adams-Oliver Syndrome 2
OMIM:614219
Fowler Urethral Sphincter Dysfunction Syndrome
ORPHA:2795
Peters Anomaly
ORPHA:708
Ectopia Lentis Et Pupillae
OMIM:225200
Spondylo-Ocular Syndrome
ORPHA:85194
Ectodermal Dysplasia-Blindness Syndrome
ORPHA:1806
Bangstad Syndrome
ORPHA:1227
Meckel Syndrome, Type 8
OMIM:613885
Microphthalmia, Syndromic 5
OMIM:610125
Fanconi Anemia, Complementation Group G
OMIM:614082
Cataract 10, Multiple Types
OMIM:600881
Nasopalpebral Lipoma-Coloboma Syndrome
ORPHA:2399
Distal Monosomy 10P
ORPHA:1580
Xp22.13P22.2 Duplication Syndrome
ORPHA:284180
Methylmalonate Semialdehyde Dehydrogenase Deficiency
OMIM:614105
Temtamy Syndrome
ORPHA:1777
Frontofacionasal Dysplasia
ORPHA:1791
Microphthalmia-Microtia-Fetal Akinesia Syndrome
ORPHA:2547
Preeclampsia
ORPHA:275555
Aniridia And Absent Patella
OMIM:106220
Premature Ovarian Failure 17
OMIM:619146
Pelvis-Shoulder Dysplasia
OMIM:169550
Rodrigues Blindness
OMIM:268320
X-Linked Lymphoproliferative Disease
ORPHA:2442
Coloboma, Ocular, Autosomal Dominant
OMIM:120200
Frontonasal Dysplasia 1
OMIM:136760
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
OMIM:619082
Bresek Syndrome
ORPHA:85284
Immunodeficiency 68
OMIM:612260
Satoyoshi Syndrome
ORPHA:3130
Craniotelencephalic Dysplasia
ORPHA:1528
Craniotelencephalic Dysplasia
OMIM:218670
Otodental Syndrome
ORPHA:2791
Warburg Micro Syndrome 4
OMIM:615663
Burkitt Lymphoma
ORPHA:543
Trisomy 13
ORPHA:3378
Myoclonic-Astatic Epilepsy
ORPHA:1942
Fanconi Anemia, Complementation Group J
OMIM:609054
Cataract 3, Multiple Types
OMIM:601547
Nance-Horan Syndrome
OMIM:302350
Moebius Syndrome
OMIM:157900
Warburg Micro Syndrome 3
OMIM:614222
Autoimmune Lymphoproliferative Syndrome
ORPHA:3261
Fanconi Anemia, Complementation Group S
OMIM:617883
Hydrolethalus
ORPHA:2189
Proximal Myotonic Myopathy
ORPHA:606
Proteus Syndrome
ORPHA:744
Vitreoretinochoroidopathy
OMIM:193220
46,Xy Sex Reversal 7
OMIM:233420
Perrault Syndrome 4
OMIM:615300
Myopia, High, With Cataract And Vitreoretinal Degeneration
OMIM:614292
Cataract 5, Multiple Types
OMIM:116800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
ORPHA:77298
Subaortic Stenosis-Short Stature Syndrome
ORPHA:3191
Neurooculocardiogenitourinary Syndrome
OMIM:618652
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
ORPHA:90793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
OMIM:615249
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
ORPHA:228390
Xeroderma Pigmentosum, Complementation Group D
OMIM:278730
Partial Androgen Insensitivity Syndrome
ORPHA:90797
Warburg Micro Syndrome 2
OMIM:614225
Müllerian Aplasia And Hyperandrogenism
ORPHA:247768
Blindness-Scoliosis-Arachnodactyly Syndrome
ORPHA:171844
Seckel Syndrome 2
OMIM:606744
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
OMIM:602501
Rere-Related Neurodevelopmental Syndrome
ORPHA:494344
Aniridia 1
OMIM:106210
Congenital Muscular Dystrophy With Cerebellar Involvement
ORPHA:370959
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
OMIM:601552
Meckel Syndrome, Type 5
OMIM:611561
3Q29 Microduplication Syndrome
ORPHA:251038
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
OMIM:268020
Manitoba Oculotrichoanal Syndrome
OMIM:248450
Donohue Syndrome
OMIM:246200
Hartsfield Syndrome
ORPHA:2117
Multiple Benign Circumferential Skin Creases On Limbs
ORPHA:2505
Microphthalmia, Syndromic 3
OMIM:206900
Refsum Disease
ORPHA:773
Bardet-Biedl Syndrome 1
OMIM:209900
Oculopalatocerebral Syndrome
OMIM:257910
Congenital Factor Vii Deficiency
ORPHA:327
Oculofaciocardiodental Syndrome
ORPHA:2712
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
ORPHA:331206
Akt2-Related Familial Partial Lipodystrophy
ORPHA:79085
Microphthalmia, Isolated 8
OMIM:615113
Stromme Syndrome
OMIM:243605
Chromosome 17Q12 Duplication Syndrome
OMIM:614526
Baraitser-Winter Syndrome 2
OMIM:614583
Monosomy 18P
ORPHA:1598
Congenital Generalized Lipodystrophy
ORPHA:528
Joubert Syndrome 22
OMIM:615665
Baraitser-Winter Syndrome 1
OMIM:243310
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
OMIM:619053
Skin Creases, Congenital Symmetric Circumferential, 2
OMIM:616734
Walker-Warburg Syndrome
ORPHA:899
Blepharophimosis, Ptosis, And Epicanthus Inversus
OMIM:110100
Adams-Oliver Syndrome
ORPHA:974
Polycystic Kidney, Cataract, And Congenital Blindness
OMIM:263100
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
ORPHA:90795
Cat Eye Syndrome
OMIM:115470
Papillorenal Syndrome
OMIM:120330
45,X/46,Xy Mixed Gonadal Dysgenesis
ORPHA:1772
Tetraamelia-Multiple Malformations Syndrome
ORPHA:3301
Sandestig-Stefanova Syndrome
OMIM:618804
Kapur-Toriello Syndrome
ORPHA:2328
Spondyloepiphyseal Dysplasia, Nishimura Type
ORPHA:163649
Solitary Median Maxillary Central Incisor
OMIM:147250
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
OMIM:600122
Coloboma, Ocular, Autosomal Recessive
OMIM:216820
Joubert Syndrome 14
OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
OMIM:616538
Frontonasal Dysplasia 3
OMIM:613456
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
ORPHA:457059
Nasopalpebral Lipoma-Coloboma Syndrome
OMIM:167730
Aniridia-Absent Patella Syndrome
ORPHA:1069
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
ORPHA:1770
Lipe-Related Familial Partial Lipodystrophy
ORPHA:435660
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
ORPHA:2728
Chromosome 13Q33-Q34 Deletion Syndrome
OMIM:619148
Cidec-Related Familial Partial Lipodystrophy
ORPHA:435651
Lipodystrophy, Familial Partial, Type 3
OMIM:604367
Meckel Syndrome, Type 2
OMIM:603194
Meckel Syndrome
ORPHA:564
8Q21.11 Microdeletion Syndrome
ORPHA:284160
Vitreoretinal Degeneration, Snowflake Type
OMIM:193230
17Q12 Microduplication Syndrome
ORPHA:261272
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
ORPHA:404440
Ring Chromosome 10 Syndrome
ORPHA:1438
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
OMIM:618727
Gracile Bone Dysplasia
OMIM:602361
Micro Syndrome
ORPHA:2510
Osteoporosis-Pseudoglioma Syndrome
OMIM:259770
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
OMIM:614833
Encephalocraniocutaneous Lipomatosis
OMIM:613001
Marden-Walker Syndrome
OMIM:248700
Familial Partial Lipodystrophy, Dunnigan Type
ORPHA:2348
Cryptophthalmos, Unilateral Or Bilateral, Isolated
OMIM:123570
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
ORPHA:369891
Oculodentodigital Dysplasia, Autosomal Recessive
OMIM:257850
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
OMIM:618571
Xeroderma Pigmentosum, Complementation Group B
OMIM:610651
Fanconi Anemia, Complementation Group I
OMIM:609053
Cowden Syndrome 6
OMIM:615109
Trichothiodystrophy 4, Nonphotosensitive
OMIM:234050
Kapur-Toriello Syndrome
OMIM:244300
Martsolf Syndrome 1
OMIM:212720
Autoimmune Polyendocrine Syndrome, Type Ii
OMIM:269200
Cowden Syndrome 1
OMIM:158350
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
OMIM:618914
Cowden Syndrome 5
OMIM:615108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
OMIM:613150
3P25.3 Microdeletion Syndrome
ORPHA:435638
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
OMIM:617306
3Q29 Microdeletion Syndrome
ORPHA:65286
Ritscher-Schinzel Syndrome 3
OMIM:619135
Microphthalmia-Brain Atrophy Syndrome
ORPHA:77299
Mosaic Trisomy 9
ORPHA:99776
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
ORPHA:2250
Pparg-Related Familial Partial Lipodystrophy
ORPHA:79083
Joubert Syndrome 2
OMIM:608091
Trichothiodystrophy 1, Photosensitive
OMIM:601675
Microphthalmia With Limb Anomalies
OMIM:206920
Frontorhiny
ORPHA:391474
Exudative Vitreoretinopathy 2, X-Linked
OMIM:305390
Nthl1-Related Attenuated Familial Adenomatous Polyposis
ORPHA:454840
Linear Skin Defects With Multiple Congenital Anomalies 1
OMIM:309801
Mccune-Albright Syndrome
ORPHA:562
Peutz-Jeghers Syndrome
OMIM:175200
Pseudotrisomy 13 Syndrome
OMIM:264480
Fanconi Anemia, Complementation Group L
OMIM:614083
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
OMIM:300863
Luscan-Lumish Syndrome
OMIM:616831
Histiocytoid Cardiomyopathy
ORPHA:137675
Fibrous Dysplasia Of Bone
ORPHA:249
Cystic Echinococcosis
ORPHA:400
Meckel Syndrome, Type 4
OMIM:611134
Subaortic Stenosis--Short Stature Syndrome
OMIM:271960
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
ORPHA:1352
Vacterl With Hydrocephalus
ORPHA:3412
Stevenson-Carey Syndrome
OMIM:611961
Skin Creases, Congenital Symmetric Circumferential, 1
OMIM:156610
Oculo-Palato-Cerebral Syndrome
ORPHA:2714
Proteus-Like Syndrome
ORPHA:2969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
OMIM:236670
Hallermann-Streiff Syndrome
OMIM:234100
Oculotrichoanal Syndrome
ORPHA:2717
Chondrodysplasia Punctata 2, X-Linked Dominant
OMIM:302960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
OMIM:614643
Mosaic Trisomy 1
ORPHA:1692
Primary Lipodystrophy
ORPHA:90970
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
OMIM:607597
Hypoplasminogenemia
ORPHA:722
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
ORPHA:371428
Steinfeld Syndrome
OMIM:184705
Tetraamelia Syndrome 1
OMIM:273395
Jacobsen Syndrome
OMIM:147791
Dubowitz Syndrome
OMIM:223370
Cousin Syndrome
OMIM:260660
Basel-Vanagaite-Smirin-Yosef Syndrome
ORPHA:464738
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
ORPHA:163966
Curry-Jones Syndrome
ORPHA:1553
Fanconi Anemia, Complementation Group F
OMIM:603467
Phace Association
OMIM:606519
Phace Syndrome
ORPHA:42775
Fryns Syndrome
ORPHA:2059
Monosomy 9Q22.3
ORPHA:77301
Rothmund-Thomson Syndrome, Type 2
OMIM:268400
Heart And Brain Malformation Syndrome
OMIM:616920
Bosma Arhinia Microphthalmia Syndrome
OMIM:603457
Hemihyperplasia-Multiple Lipomatosis Syndrome
ORPHA:276280
Focal Dermal Hypoplasia
ORPHA:2092
Fanconi Anemia, Complementation Group D2
OMIM:227646
Microphthalmia, Syndromic 9
OMIM:601186
Cockayne Syndrome Type 3
ORPHA:90324
Fanconi Anemia, Complementation Group E
OMIM:600901
Duane-Radial Ray Syndrome
OMIM:607323
Microphthalmia, Lenz Type
ORPHA:568
Fetal Alcohol Syndrome
ORPHA:1915
Fanconi Anemia, Complementation Group A
OMIM:227650
Infantile Systemic Hyalinosis
ORPHA:2176
Pallister-Hall Syndrome
OMIM:146510
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
ORPHA:370
Pelvis-Shoulder Dysplasia
ORPHA:2839
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
OMIM:600123
Incontinentia Pigmenti
OMIM:308300
Galloway-Mowat Syndrome 1
OMIM:251300
Cerebrooculofacioskeletal Syndrome 4
OMIM:610758
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
OMIM:616300
Frontofacionasal Dysplasia
OMIM:229400
Curry-Jones Syndrome
OMIM:601707
Short-Rib Thoracic Dysplasia 20 With Polydactyly
OMIM:617925
Holoprosencephaly 9
OMIM:610829
Trisomy 18
ORPHA:3380
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
ORPHA:264580
Chromosome 17Q12 Deletion Syndrome
OMIM:614527
Acro-Renal-Ocular Syndrome
ORPHA:959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
OMIM:253800
1Q21.1 Microdeletion Syndrome
ORPHA:250989
Treacher-Collins Syndrome
ORPHA:861
Cockayne Syndrome B
OMIM:133540
Microcephaly-Micromelia Syndrome
OMIM:251230
Fraser Syndrome
ORPHA:2052
Holoprosencephaly
ORPHA:2162
Basal Cell Nevus Syndrome
OMIM:109400
Holoprosencephaly-Postaxial Polydactyly Syndrome
ORPHA:2166
Cohen Syndrome
ORPHA:193
Fanconi Anemia, Complementation Group C
OMIM:227645
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
ORPHA:280365
Acquired Generalized Lipodystrophy
ORPHA:79086
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
ORPHA:572333
Oculodentodigital Dysplasia
OMIM:164200
Bartsocas-Papas Syndrome 1
OMIM:263650
Fanconi Anemia
ORPHA:84
Microphthalmia With Linear Skin Defects Syndrome
ORPHA:2556
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
OMIM:616975
Incontinentia Pigmenti
ORPHA:464
Cockayne Syndrome
ORPHA:191
Mend Syndrome
ORPHA:401973
Kenny-Caffey Syndrome, Type 2
OMIM:127000
Lipodystrophy, Familial Partial, Type 2
OMIM:151660
Meckel Syndrome, Type 1
OMIM:249000
Orofaciodigital Syndrome I
OMIM:311200
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
ORPHA:1236
Hallermann-Streiff Syndrome
ORPHA:2108
Charge Syndrome
ORPHA:138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
OMIM:253280
Monosomy 13Q14
ORPHA:1587
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
ORPHA:3186
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
OMIM:175780
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
ORPHA:364577
Linear Nevus Sebaceus Syndrome
ORPHA:2612
Mosaic Variegated Aneuploidy Syndrome
ORPHA:1052
Lipodystrophy, Congenital Generalized, Type 1
OMIM:608594
Mycophenolate Mofetil Embryopathy
ORPHA:268249
Aicardi Syndrome
OMIM:304050
Microgastria-Limb Reduction Defect Syndrome
ORPHA:2538
Witteveen-Kolk Syndrome
OMIM:613406
Trichothiodystrophy
ORPHA:33364
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
OMIM:609945
Lipodystrophy, Congenital Generalized, Type 2
OMIM:269700
Fryns Syndrome
OMIM:229850
Acrofrontofacionasal Dysostosis 1
OMIM:201180
22Q11.2 Deletion Syndrome
ORPHA:567
Monosomy 9P
ORPHA:261112
Galloway-Mowat Syndrome 3
OMIM:617729
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
ORPHA:508498
Norrie Disease
ORPHA:649
Hemifacial Microsomia
OMIM:164210
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
OMIM:201750
Roberts Syndrome
ORPHA:3103
Momo Syndrome
ORPHA:2563
Myhre Syndrome
OMIM:139210
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
ORPHA:2526
Oculocerebrorenal Syndrome Of Lowe
ORPHA:534